Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report

• Hoofdauteurs: Stefania Pedicelli (Auteur), Luca de Palma (Auteur), Caterina Pelosini (Auteur), Marco Cappa (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrophy (PELD), which is characterized by the development of progressive...